Incidental Mutation 'IGL02483:Vmn2r88'
| ID |
295289 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r3, V2r13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
IGL02483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51410819-51419527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51414154 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 308
(E308D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: E316D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: E316D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159674
AA Change: E308D
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: E308D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163019
AA Change: E283D
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: E283D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: E308D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
G |
8: 83,725,253 (GRCm38) |
I512L |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 9,003,308 (GRCm38) |
T652N |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,363,794 (GRCm38) |
A209T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 84,251,397 (GRCm38) |
H659L |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,060,826 (GRCm38) |
|
probably null |
Het |
| Car6 |
T |
A |
4: 150,196,129 (GRCm38) |
N86I |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,581,105 (GRCm38) |
E863V |
probably damaging |
Het |
| Cyp2c39 |
T |
A |
19: 39,536,787 (GRCm38) |
I178N |
probably damaging |
Het |
| Cysltr1 |
C |
A |
X: 106,578,122 (GRCm38) |
V253L |
probably damaging |
Het |
| Dgcr6 |
G |
A |
16: 18,065,174 (GRCm38) |
A6T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,319,080 (GRCm38) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,653,071 (GRCm38) |
L82Q |
probably damaging |
Het |
| Ercc6l |
T |
C |
X: 102,144,669 (GRCm38) |
T745A |
probably benign |
Het |
| Fam192a |
A |
G |
8: 94,588,766 (GRCm38) |
|
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,808,421 (GRCm38) |
V54A |
possibly damaging |
Het |
| Foxd3 |
C |
T |
4: 99,657,028 (GRCm38) |
S135F |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,423,876 (GRCm38) |
F21Y |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,200,461 (GRCm38) |
T414A |
probably benign |
Het |
| Gm4950 |
A |
T |
18: 51,865,334 (GRCm38) |
M183K |
probably damaging |
Het |
| Gmps |
A |
G |
3: 64,014,352 (GRCm38) |
D592G |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,182,578 (GRCm38) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,444,275 (GRCm38) |
|
probably null |
Het |
| Itgbl1 |
A |
T |
14: 123,827,743 (GRCm38) |
|
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,354,561 (GRCm38) |
|
probably benign |
Het |
| Kdr |
C |
T |
5: 75,936,294 (GRCm38) |
|
probably null |
Het |
| Lca5 |
A |
T |
9: 83,423,117 (GRCm38) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 135,001,691 (GRCm38) |
|
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,617,983 (GRCm38) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,178,036 (GRCm38) |
T174P |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,318 (GRCm38) |
|
probably benign |
Het |
| Mcm3 |
A |
G |
1: 20,803,572 (GRCm38) |
S775P |
possibly damaging |
Het |
| Myh10 |
G |
A |
11: 68,802,168 (GRCm38) |
A1393T |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,324,294 (GRCm38) |
A541V |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,625,995 (GRCm38) |
Q2578* |
probably null |
Het |
| Nlrp4f |
T |
A |
13: 65,194,734 (GRCm38) |
T366S |
probably benign |
Het |
| Olfr117 |
A |
G |
17: 37,659,472 (GRCm38) |
L287P |
probably damaging |
Het |
| Olfr1216 |
G |
T |
2: 89,013,203 (GRCm38) |
T287N |
probably damaging |
Het |
| Olfr1335 |
C |
T |
4: 118,809,499 (GRCm38) |
V122M |
probably benign |
Het |
| Oma1 |
C |
T |
4: 103,325,112 (GRCm38) |
R271* |
probably null |
Het |
| Plekhh2 |
T |
C |
17: 84,596,260 (GRCm38) |
F1058S |
possibly damaging |
Het |
| Psen2 |
T |
A |
1: 180,235,061 (GRCm38) |
M239L |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,680,049 (GRCm38) |
I794T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,030,517 (GRCm38) |
E506G |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,915,907 (GRCm38) |
P250S |
probably damaging |
Het |
| Sfr1 |
G |
A |
19: 47,732,788 (GRCm38) |
|
probably benign |
Het |
| Tmem184a |
T |
C |
5: 139,813,077 (GRCm38) |
E39G |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,477,630 (GRCm38) |
|
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,001,145 (GRCm38) |
Y85C |
possibly damaging |
Het |
| Uts2r |
G |
T |
11: 121,160,387 (GRCm38) |
G26C |
possibly damaging |
Het |
| Wdr61 |
T |
C |
9: 54,728,261 (GRCm38) |
I19V |
probably damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,125 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,417,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,418,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,414,140 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,414,502 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,418,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,418,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,416,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,413,030 (GRCm38) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,418,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,418,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,413,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,413,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,414,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,418,689 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,413,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,418,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,413,978 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,413,190 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,415,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,413,289 (GRCm38) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,417,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,418,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,418,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,418,793 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,418,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,413,334 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,413,339 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,413,245 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,413,181 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,411,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,413,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,418,149 (GRCm38) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,415,369 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,414,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,413,969 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,418,643 (GRCm38) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,413,796 (GRCm38) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,418,319 (GRCm38) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,414,255 (GRCm38) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,410,858 (GRCm38) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,413,997 (GRCm38) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,417,989 (GRCm38) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,418,449 (GRCm38) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,418,703 (GRCm38) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,413,132 (GRCm38) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,414,107 (GRCm38) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,413,073 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,414,066 (GRCm38) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,418,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,411,136 (GRCm38) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,418,526 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,413,167 (GRCm38) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,414,033 (GRCm38) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,410,872 (GRCm38) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,418,740 (GRCm38) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,411,184 (GRCm38) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,413,732 (GRCm38) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,413,127 (GRCm38) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,413,832 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,187 (GRCm38) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,046 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,413,201 (GRCm38) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation